Treatment of Wilson's disease: penicillamine or triene?
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Biomedical subjects
Publications and source records attributed to S Felber.
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MRI aspects of olivary pseudohypertrophy (OH) following pontocerebellar lesions of different etiology and localization are reviewed. OH is characterized by unilateral or bilateral enlargement of the inferior olivary nucleus and increased signal intensity in T2- and, especially, in proton-density (PD)-weighted images. Correlations between the extent and the uni- or bilateral presence of olivary hypertrophy and the localization of the primary pontocerebellar lesions are discussed.
The Lennox-Gastaut syndrome (LGS) is a severe epileptic disorder, characterized by developmental delay, typical electroencephalographic pattern and poor control of seizures. This epileptic syndrome generally presents in early childhood but exceptionally starts at the age of 5 years or later. We describe a patient who was classified as late-onset LGS, with evidence of mild hydrocephalus on CT. MRI added new diagnostic information by demonstrating laminar heterotopic grey matter.
We report on two brothers with partial agenesis of the corpus callosum and seizure disorder presumably related to ectopic grey matter. Development of both patients was characterized by psychomotor retardation and focal epileptic seizures. Genetic examination revealed normal karyotypes. One brother showed a remarkable focal miniature spike and wave periodicity constantly observed on sequential EEG records. Magnetic resonance imaging revealed partial agenesis of the corpus callosum and ectopic grey matter. Prior computerized tomography failed to visualize ectopic grey matter and overestimated corpus callosum agenesis. The heterotopic grey matter, isolated from the surrounding inhibiting influences, is the most probable source of focal seizures and the partial connection of both hemispheres may explain secondary generalization of seizures.
In this paper the authors present the principal advantages and values of CNS diagnostics by magnetic resonance imaging (MRI), on the basis of the data from the available literature as well as on the 3-year experience of the MRI Institute in Innsbruck. Also, qualitative advantages of MR 1.5 T over other, less powerful machines, have been emphasized. So far, the experience has proved that, for the moment, the 1.5 MR machine offers optimal characteristics for the diagnostics of the CNS diseases.
We report on a boy with type II lissencephaly and congenital muscular dystrophy. The patient presented with the features of a cerebro-oculo-muscular syndrome (COMS). We describe the clinical presentations and the characteristic sonographic and MR findings.
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Tin-protoporphyrin (SnP) is actively being investigated for treatment of exaggerated neonatal hyperbilirubinemia. Because both bilirubin conjugation and excretion are immature in the human newborn, we investigated the effect of SnP on bilirubin-conjugating mechanisms and the efficacy of SnP in suppressing serum bilirubin levels in adult rats made cholestatic by surgical bile duct ligation. Male Sprague-Dawley rats received SnP (100 mumol/kg body weight) subcutaneously either 24 h before or 24 or 48 h after bile duct ligation. Serum and urine specimens were collected 72 h after bile duct ligation and analyzed for bilirubin and its conjugates. As compared to a control group that received bile duct ligation and a sodium phosphate buffer injection, all SnP-treated animals had a significant lowering of total serum bilirubin levels. No differences in the distribution of serum bilirubin mono- and diconjugates in serum or urine samples were observed. However, the concentrations of covalently linked bilirubinprotein conjugates were significantly higher in the control cholestatic rats when compared to the SnP-treated animals. SnP effectively lowers serum bilirubin levels in rats with an impaired biliary excretory pathway for SnP. There was no adverse effect on bilirubin conjugation and no observable toxicity.
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We used a highly specific method, alkaline methanolysis-high performance liquid chromatography, for determining the concentration and patterns of the unconjugated and esterified bilirubin fractions in the sera of pediatric patients with hepatobiliary disease. Bilirubin-protein conjugates were assayed using a new method that selectively removes bilirubin reversibly bound to protein, allowing measurement of the tightly bound bilirubin-protein conjugates by use of a diazo method. Fifty-two serum samples from children with varying bilirubin concentrations and diagnoses were studied. Whereas no conjugated pigment was detectable in the serum samples of healthy children or in individuals with Gilbert syndrome or Crigler-Najjar syndrome, bilirubin monoester and diester conjugates and bilirubin-protein conjugates were present in the sera of children with cholestatic liver disease, and accounted for 69% +/- 15% of the total bilirubin in these samples. Bilirubin fractional analysis was incapable of differentiating extrahepatic biliary obstruction from hepatocellular disease, because of overlap between the groups. The presence of bilirubin-protein conjugates in serum always coincided with detection of bilirubin monoester and diester conjugates. The distribution of bilirubin and its conjugates in sera provides a sensitive, although nonspecific, measure of hepatic disease.
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The results of Doppler sonographic and Duplex sonographic examinations of the extracranial carotid artery carried out in 100 patients by two sonographers were compared with angiographic findings. The accuracy and quality of the ultrasonic examinations did not differ from those of documented examinations performed by physicians. The percentage of error due to mistakes on the part of sonographer vas 1.3%. We conclude that sonographers are qualified for performing carotid Doppler and duplex sonography, provided that they are well-trained, experienced and supervised.
Localizing the bleeding site in pediatric patients with gastrointestinal hemorrhage may require invasive and costly diagnostic procedures. A simple index to discriminate upper and lower bleeding sources would be invaluable. We evaluated the reliability of the calculated blood urea nitrogen/creatinine (BUN/Cr) ratio in segregating upper from lower gastrointestinal bleeding sites in 40 children. For upper gastrointestinal hemorrhage, the calculated BUN/Cr ratios (mg/mg) ranged from 10 to 140, with a mean value of 34. For lower gastrointestinal bleeders, the BUN/Cr ratios ranged from 3.3 to 30, with a mean value of 16. All BUN/Cr ratios greater than 30 corresponded to patients with documented upper gastrointestinal bleeding sources. Calculation of the BUN/Cr ratio in the initial evaluation of gastrointestinal bleeding may prove useful in guiding the sequence of diagnostic procedures and examinations.
The only randomized data on heparin treatment in acute cerebral sinus venous thrombosis (CSVT) are derived from a small number of patients. The rate of intracranial hemorrhages as a complication of high-dose heparin treatment is still unknown. This retrospective study evaluates the clinical features, neuroimaging monitoring and outcome of 42 patients with proven CSVT. Diagnosis was established by DSA, CT, MR tomography and MR angiography. All patients received heparin intravenously guided by doubling the aPTT value for 3 weeks, followed by oral anticoagulation. Partial or complete recanalization was found in 36 cases. 40 patients improved clinically, in 26 of them complete recovery was observed. One patient deteriorated and developed an apallic syndrome, one further patient died of septic multiorgan failure. Only in one patient was hemorrhagic transformation of infarcted brain tissue observed but without clinical deterioration.